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Mitochondrial disease

Gene: RRM2B

Green List (high evidence)

RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)
EnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Single family reported with this phenotype, likely represents a continuum for a mitochondrial disorder rather than a separate entity.
Created: 3 Mar 2022, 6:43 a.m. | Last Modified: 3 Mar 2022, 6:43 a.m.
Panel Version: 0.11115

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Genereviews:
>50 families reported
Created: 21 Feb 2022, 3:52 a.m. | Last Modified: 21 Feb 2022, 3:52 a.m.
Panel Version: 0.11011

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RRM2B was added gene: RRM2B was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: RRM2B was set to Unknown